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Type: Artigo
Title: The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene
Author: Lucas-Herald, A.
Bertelloni, S.
Juul, A.
Bryce, J.
Jiang, J.
Rodie, M.
Sinnott, R.
Boroujerdi, M.
Johansen, M. Lindhardt
Hiort, O.
Holterhus, P. M.
Cools, M.
Guaragna-Filho, G.
Guerra-Junior, G.
Weintrob, N.
Hannema, S.
Drop, S.
Guran, T.
Darendeliler, F.
Nordenstrom, A.
Hughes, I. A.
Acerini, C.
Tadokoro-Cuccaro, R.
Ahmed, S. F.
Abstract: Background: In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. Objective: To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis. Methods: Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR. Results: The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16 years) and 22 years (range, 16 to 52 years), respectively. Of the cohort, 29 men (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinization scores were 7 and 6 in cases with and without AR mutation, respectively (P =.9), and median current external masculinization scores were 9 and 10, respectively (P =.28). Thirty-five men (67%) required at least one surgical procedure, and those with a mutation were more likely to require multiple surgeries for hypospadias (P =.004). All cases with an AR mutation had gynecomastia, compared to 9% of those without an AR mutation. Of the six men who had a mastectomy, five (83%) had an AR mutation. Conclusions: Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management
Subject: Síndrome de resistência a andrógenos
Country: Estados Unidos
Editor: Oxford University Press
Rights: Fechado
Identifier DOI: 10.1210/jc.2016-1372
Date Issue: 2016
Appears in Collections:FCM - Artigos e Outros Documentos

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